Varaico: Literature-Extracted Genetic Variants

WASF1

427 papers

RefSeq Summary

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskelet...

Pfam Domains

SCAR_helicalaa 28–86UCSCSCAR helical domain

WAVE5_2ndaa 115–156UCSCWAVE5 second domain

WH2aa 494–521UCSCWH2 motif

Gene Aliases

HGNC Name

WASP family member 1

HGNC Alias Symbols

WAVE1; SCAR1; KIAA0269; WAVE; WAVE-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003931.3

p.D50G

c.149A>G

Surrounding Variants

1 paper

NM_003931.3

p.I51V

c.151A>G

2 papers

NM_003931.3

p.E49V

c.146A>T

1 paper

NM_003931.3

p.Y47_A48insFs

c.141_142insA

1 paper

NM_003931.3

p.Y47_A48ins7

c.139_143ins21

1 paper

NM_003931.3

p.K46*

c.136A>T

2 papers

NM_003931.3

p.F56delFs

c.167delA

1 paper

NM_003931.3

p.S45Splc

c.134-5C>G

1 paper

NM_003931.3

p.N57S

c.170A>G

1 paper

NM_003931.3

p.E58*

c.172G>T

1 paper

NM_003931.3

p.E58A

c.173A>C

1 paper

NM_003931.3

p.A59V

c.176C>T

1 paper

NM_003931.3

p.L55_H60del6

c.163_179del18